Varaico: Literature-Extracted Genetic Variants

Gene:GLDN
Variant:p.L365F
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GLDN

NM_181789.4:p.L365F

Associated Papers

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.

Potrony M et al.

Journal of Clinical Medicine, 2022

Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants.

Eurich B et al.

Children (basel, Switzerland), 2022

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

Mis EK et al.

American Journal of Medical Genetics. Part A, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."